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Summary Literature (0)
DOID:0090101 - lethal congenital glycogen storage disease of heart

Disease Ontology Definition:A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.

Synonyms: fatal congenital hypertrophic cardiomyopathy due to glycogenosis, fatal congenital hypertrophic cardiomyopathy due to GSD, fatal congenital nonlysosomal cardiac glycogenosis, fatal congenital nonlysosomal cardiac glycogenosis, phosphorylase kinase deficiency of heart

Xenbase Genes : prkag2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009867 - lethal congenital glycogen storage disease of heart


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), glycogen storage disease (is_a), physical disorder (is_a)